A51D (p.Ala51Asp) variant of LRRK2 (Q5S007)
A51D (p.Ala51Asp) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- rs1940829289
- ClinGen CA384398910
- ClinVar RCV002400844
- gnomAD rs1940829289
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.82
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)